The microbiome of RAG-deficient patients - Metagenome. The microbiome of RAG-deficient patients

Recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the process of V(D)J recombination in developing lymphocytes. Hypomorphic RAG mutations result in a combination of immunodeficiency and immune dysregulation and result is a broad spectrum of clinical phenotypes including an increased propensity for viral, bacterial and fungal infections. In this study, we sought to investigate the human skin, nares, and gastrointestinal tract microbiomes associated with eight RAG-deficient patients.